Challenges and solutions for detection, standardized interpretation and reporting of pathogenic BRCA mutations and beyond

The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become common practice. While testing using NGS technologies is state of the art, the main challenge remains to optimize and maintain a fragmented NGS workflow to be able to comprehensively identify and classify all pathogenic and actionable variants in both genes. 

Join us at the webinar as we explore the challenges and present solutions for detection, standardized interpretation, and reporting of challenging BRCA mutations like copy number variants (CNVs) on exon level, splicing variants, and those in homopolymer regions.

Anika Joecker, Ph.D.

Dr. Anika Joecker is Global Product Manager at QIAGEN Bioinformatics. She joined CLC bio (now QIAGEN) in 2011 as Senior Bioinformatician. Anika Joecker holds a Ph.D. in Biology/Bioinformatics from University Cologne, Germany, and has worked as Bioinformatics group leader at the German Cancer Research Center Heidelberg, Germany.